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Fetal and Pediatric Pathology Apr 2021Myofibromatosis is a distinctive mesenchymal disorder occurring predominantly in childhood, which on microscopy shows peripheral light areas of spindle cells and central...
INTRODUCTION
Myofibromatosis is a distinctive mesenchymal disorder occurring predominantly in childhood, which on microscopy shows peripheral light areas of spindle cells and central cellular areas of primitive oval to spindle cells arranged around hemagiopercytomatous vessels. PDFGRB mutations in the familial and multifocal sporadic forms and fusions in the cellular variants have been identified. The index case is being presented to discuss the clinico-pathological features, differential diagnosis, and management of the lesion.
CASE PRESENTATION
An 11-year-old male presented with an infraorbital mass of 3 months duration. The mass was excised and microscopy revealed the morphological features of myofibroma with tram-track SMA immunopositivity. Nodular fasciitis and fibromatosis were the differentials considered.
CONCLUSION
The gene fusion may represent a subset that in the future may be used to differentiate these myofibromas/myopericytomas from the fusion myopericytomas, and may be used to perhaps separate out familial myofibromas from other myofibromas.
Topics: Child; Diagnosis, Differential; Humans; Male; Mutation; Myofibroma; Myofibromatosis; Receptor, Platelet-Derived Growth Factor beta
PubMed: 31738635
DOI: 10.1080/15513815.2019.1686785 -
Journal of Pediatric Hematology/oncology Nov 2020Infantile myofibromatiosis (IM) is a rare benign tumor in the infants, but it has a bad prognosis if IM erncroaches on the viscera. Multiple tissues can be invaded by... (Review)
Review
BACKGROUND
Infantile myofibromatiosis (IM) is a rare benign tumor in the infants, but it has a bad prognosis if IM erncroaches on the viscera. Multiple tissues can be invaded by IM, including the subcutaneous tissue, the muscle of the neck, back, and head, but seldom in the bones and the viscera. The histopathologic and immunohistochemical examinations are necessary in daigonosis of IM as it might be misdiagnosed as the malignant tumor.
MATERIALS AND METHOD
Thirty-two consecutive patients with IM in our hospital (2003-2013) were enrolled and the clinical date were analyzed to understand IM better, such as the feature of clinical manifestations, pathology, imaging tests, and treatment.
RESULTS
All of them underwent excision operations, 4 of them with invasion in the bones, 2 with invasion in the craniums, and the rest in the ulna and the humerus. The immunohistiochemical analysis shown that the tumor cells were positive to vimentin and smooth muscle actin while negative to the S100 protein and desmin. Twenty-five patients were in follow-up, 2 cases recurred.
CONCLUSIONS
IM is a benign tumor, but IM with the viscera involvement has a bad prognosis. The strategy of waiting and observation for IM without visceral involvement could be selected.
Topics: Adolescent; Child; Child, Preschool; Diagnosis, Differential; Female; Humans; Immunohistochemistry; Infant; Infant, Newborn; Male; Myofibromatosis
PubMed: 31764512
DOI: 10.1097/MPH.0000000000001603 -
Pediatric Surgery International Mar 2008Despite being the most common fibrous tumour of infancy, infantile myofibromatosis is still sufficiently rare for the diagnosis not to be apparent to many clinicians. We... (Review)
Review
Despite being the most common fibrous tumour of infancy, infantile myofibromatosis is still sufficiently rare for the diagnosis not to be apparent to many clinicians. We present the data from the 12 cases seen in our institute over the last 14 years and highlight three cases, the first a "typical" case, then a retroperitoneal myofibroma that presented with duodenal obstruction and finally one that presented as an isolated scrotal mass. We have also reviewed the literature on the subject.
Topics: Biopsy; Diagnosis, Differential; Female; Humans; Infant; Infant, Newborn; Male; Myofibromatosis; Prognosis
PubMed: 18074145
DOI: 10.1007/s00383-007-2091-7 -
The British Journal of Radiology Jul 1994Infantile myofibromatosis is a rare condition which usually presents in childhood. It has a wide spectrum of disease activity, ranging from a solitary cutaneous nodule,... (Review)
Review
Infantile myofibromatosis is a rare condition which usually presents in childhood. It has a wide spectrum of disease activity, ranging from a solitary cutaneous nodule, through to a multicentric form with widespread visceral involvement. We present four cases which demonstrate the diversity of this condition and its radiological findings, together with a review of the literature.
Topics: Child; Child, Preschool; Female; Humans; Infant; Infant, Newborn; Magnetic Resonance Imaging; Male; Myofibromatosis; Prognosis; Tomography, X-Ray Computed; Ultrasonography
PubMed: 8061994
DOI: 10.1259/0007-1285-67-799-619 -
Anais Brasileiros de Dermatologia 2017Infantile myofibromatosis is a mesenchymal disorder characterized by the fibrous proliferation of the skin, bone, muscle and viscera. It is the most common fibrous tumor...
Infantile myofibromatosis is a mesenchymal disorder characterized by the fibrous proliferation of the skin, bone, muscle and viscera. It is the most common fibrous tumor in childhood. We present a newborn with skin and bone disease without visceral involvement, who showed good response to vinblastine and methotrexate. Clinical features, etiology, diagnosis, and treatment are reviewed.
Topics: Dermatologic Agents; Humans; Immunohistochemistry; Infant, Newborn; Male; Methotrexate; Myofibromatosis; Treatment Outcome; Vinblastine
PubMed: 29364448
DOI: 10.1590/abd1806-4841.20175001 -
Molecular and Cellular Pediatrics Jun 2021Infantile myofibromatosis (IM) is the most common cause of multiple fibrous tumors in infancy. Multicentric disease can be associated with life-threatening visceral...
BACKGROUND
Infantile myofibromatosis (IM) is the most common cause of multiple fibrous tumors in infancy. Multicentric disease can be associated with life-threatening visceral lesions. Germline gain-of-function mutations in PDGFRB have been identified as the most common molecular defect in familial IM.
CASE PRESENTATION
We here describe an infant with PDGFRB-driven IM with multiple tumors at different sites, including intestinal polyposis with hematochezia, necessitating temporary chemotherapy.
CONCLUSIONS
PDGFRB-driven IM is clinically challenging due to its fluctuating course and multiple organ involvement in the first years of life. Early molecular genetic analysis is necessary to consider tyrosine kinase inhibitor treatment in case of aggressive visceral lesions.
PubMed: 34132909
DOI: 10.1186/s40348-021-00117-9 -
Cellular and Molecular Life Sciences :... Apr 2021PDGFRA and PDGFRB are classical proto-oncogenes that encode receptor tyrosine kinases responding to platelet-derived growth factor (PDGF). PDGFRA mutations are found in... (Review)
Review
PDGFRA and PDGFRB are classical proto-oncogenes that encode receptor tyrosine kinases responding to platelet-derived growth factor (PDGF). PDGFRA mutations are found in gastrointestinal stromal tumors (GISTs), inflammatory fibroid polyps and gliomas, and PDGFRB mutations drive myofibroma development. In addition, chromosomal rearrangement of either gene causes myeloid neoplasms associated with hypereosinophilia. Recently, mutations in PDGFRB were linked to several noncancerous diseases. Germline heterozygous variants that reduce receptor activity have been identified in primary familial brain calcification, whereas gain-of-function mutants are present in patients with fusiform aneurysms, Kosaki overgrowth syndrome or Penttinen premature aging syndrome. Functional analysis of these variants has led to the preclinical validation of tyrosine kinase inhibitors targeting PDGF receptors, such as imatinib, as a treatment for some of these conditions. This review summarizes the rapidly expanding knowledge in this field.
Topics: Animals; Gastrointestinal Neoplasms; Gastrointestinal Stromal Tumors; Humans; Intestinal Polyps; Mutation; Myofibromatosis; Receptors, Platelet-Derived Growth Factor
PubMed: 33449152
DOI: 10.1007/s00018-020-03753-y -
Pediatric and Developmental Pathology :... 2019Infantile myofibroma is a rare benign mesenchymal tumor that presents as solitary or multiple lesions (myofibromatosis) in the skin, soft tissue, bone, or internal... (Review)
Review
Infantile myofibroma is a rare benign mesenchymal tumor that presents as solitary or multiple lesions (myofibromatosis) in the skin, soft tissue, bone, or internal organs. It most commonly affects the head and neck of infants and young children, but it can also affect adults. Intracranial involvement is reported to be extremely rare, and its clinical picture has been poorly characterized. Recently, it has been demonstrated that germline and somatic mutations in the platelet-derived growth factor receptor beta (PDGFRB) are associated with familial infantile myofibromatosis. We report a case of infantile myofibromatosis with predominant posterior fossa extradural involvement in a 14-year-old adolescent girl with a confirmed mutation in the PDGFRB gene.
Topics: Adolescent; Female; Germ-Line Mutation; Humans; Myofibromatosis; Point Mutation; Receptor, Platelet-Derived Growth Factor beta; Soft Tissue Neoplasms
PubMed: 30103666
DOI: 10.1177/1093526618787736 -
Obstetrical & Gynecological Survey Oct 2019Infantile myofibromatosis (IM) is a benign neoplasm with a reported incidence of 1:150,000. The "solitary" type is characterized by a single lesion in the skin, muscle,... (Review)
Review
IMPORTANCE
Infantile myofibromatosis (IM) is a benign neoplasm with a reported incidence of 1:150,000. The "solitary" type is characterized by a single lesion in the skin, muscle, or bone, whereas the "multicentric" type may also involve the viscera.
OBJECTIVE
This report describes the prenatal diagnosis of IM and recommendations for future pregnancy follow-up.
EVIDENCE ACQUISITION
This systematic search of the English literature yielded 8 reports documenting prenatal diagnosis of IM between 1999 and 2018.
RESULTS
Fetal age at diagnosis ranged from 13 to 38 weeks of gestation. Seven cases were diagnosed in the third trimester (30-34 weeks). Five cases were of the "solitary" type, and all successfully underwent surgical removal of the tumor with a good outcome. Three were of the "multicentric" type, and the 1 infant presenting with diffuse disease died several weeks after delivery.
CONCLUSION AND RELEVANCE
The prenatal diagnosis of IM is often not made until the third trimester following a normal second-trimester anomaly scan, likely due to development of this lesion over time. Women should be referred for genetic counseling and consideration of preimplantation genetic diagnosis following the delivery of an affected child with the autosomal recessive form of the disorder and identified causative pathogenic variants.
Topics: Female; Fetal Diseases; Gestational Age; Humans; Infant, Newborn; Magnetic Resonance Imaging; Male; Myofibromatosis; Pregnancy; Ultrasonography, Prenatal
PubMed: 31670833
DOI: 10.1097/OGX.0000000000000717 -
Archives of Disease in Childhood Mar 2024
Topics: Male; Humans; Infant; Myofibromatosis; Magnetic Resonance Imaging
PubMed: 38123918
DOI: 10.1136/archdischild-2023-326158